ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic by Baylor Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter) rs1567579525
NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs) rs1567579092
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2793dup (p.Gly932fs) rs2034450158
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) rs1057518663
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3651C>A (p.Tyr1217Ter) rs2034378960
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs) rs1555528354
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs) rs1567571990
NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)
NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs) rs1567566026
NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter) rs1298649064
NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)
NM_013275.6(ANKRD11):c.5550C>G (p.Tyr1850Ter) rs2034182420
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter) rs1555526636
NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter) rs2151742685
NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs) rs1597443966
NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter) rs572878194
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter) rs761636251
NM_013275.6(ANKRD11):c.893-1G>C rs1567583835
NM_013275.6(ANKRD11):c.928_934del (p.Pro310fs)

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